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基因检测标准品 > Mutation > CBP10121PTEN p.R130fs*4 Reference Standard 标准品

PTEN p.R130fs*4 Reference Standard 标准品
名称 PTEN p.R130fs*4 Reference Standard 标准品
型号 CBP10121
报价
特点 PTEN p.R130fs*4 Reference Standard
  • 详细内容
 CBP10121
FormatGenomic DNA
DescriptionPTEN R130fs results in a change in the amino acid sequence of the Pten protein beginning at aa 130 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R130fs has not been characterized, however, other C-terminal deletion mutants downstream of R130 are inactivating (PMID: 10468583), thus R130fs is predicted to lead to a loss of Pten protein function.
  
Technical Data 
DNA Change:c.389delG
AA Changep.R130fs*4
Mutation typeDeletion - Frameshift
ZygosityHomozygous
Allelic Frequency100.00%
TranscriptENST00000371953
Cosmic IDCOSM5817
Chr position(GRCh37)chr10:89692905
Buffer:Tris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10121.png

Storage4℃
Expiry36 months from the date of manufacture
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